Investigation of the Etiology of Hypertension and Endothelial Damage in Patients With Cytochrome P450 Oxidoreductase Deficiency (PORENDO)

This study investigates the etiology of hypertension and endothelial damage in patients with Cytochrome P450 Oxidoreductase (POR) deficiency. The study involves comparing ambulatory blood pressure monitoring (ABPM), endothelial biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide levels), and capillaroscopy findings between POR deficiency patients and healthy controls.

Study Overview

• Status: Completed
• Conditions: Hypertension; Congenital Adrenal Hyperplasia; Endothelial Dysfunction; Cytochrome P450 Oxidoreductase Deficiency

Detailed Description

Cytochrome P450 Oxidoreductase (POR) deficiency is a rare autosomal recessive condition associated with congenital adrenal hyperplasia and other systemic complications. This study aims to elucidate the role of endothelial dysfunction and hypertension in POR deficiency by comparing the biochemical, vascular, and clinical parameters of POR-deficient patients with age- and gender-matched healthy controls. The research could pave the way for targeted therapeutic interventions.

• Study Type: Observational
• Enrollment (Actual): 51

Contacts and Locations

Study Locations

• Turkey (Türkiye)
  • Istanbul, Turkey (Türkiye), 34093
    • Istanbul University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study population consists of two groups: (1) 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University and (2) 30 healthy children and adolescents matched by age and gender, without any known medical conditions. The population aims to evaluate the impact of POR deficiency on hypertension and endothelial damage.

Description

Inclusion Criteria:

• Genetically confirmed diagnosis of Cytochrome P450 Oxidoreductase (POR) deficiency
• Diagnosis of POR deficiency before the age of 18.
• Written informed consent provided by the participant and/or their legal guardian.

Exclusion Criteria:

• Presence of an acute illness or other pathology identified during the study. Nail-biting habit or manicure within the last 14 days (due to potential impact on capillaroscopy results)
• Use of medications other than physiologic hydrocortisone
• Kidney, endocrine, or vascular pathologies that may cause hypertension
• History of smoking or hand trauma

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
POR deficiency; This group includes 7 pediatric patients with genetically confirmed Cytochrome P450 Oxidoreductase (POR) deficiency under follow-up at Istanbul University, Istanbul Faculty of Medicine. The participants will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These patients are currently receiving physiologic doses of hydrocortisone as part of their standard care.
Healthy Control Group; This group consists of 30 healthy children and adolescents recruited from Istanbul University, Istanbul Faculty of Medicine. Participants are age- and gender-matched to the POR deficiency group. They will undergo ambulatory blood pressure monitoring (ABPM), nailfold capillaroscopy, and blood sampling for analysis of endothelial damage biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide). These participants have no known medical conditions or history of chronic illness.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Serum Endothelial Biomarkers (Prostaglandin E2, Thromboxane B2, and Nitric Oxide) in POR Deficiency Patients Compared to Healthy Controls	This measure evaluates the serum levels of endothelial biomarkers, including Prostaglandin E2, Thromboxane B2, and Nitric Oxide, to determine differences between patients with Cytochrome P450 Oxidoreductase (POR) deficiency and healthy controls. These biomarkers are critical for assessing endothelial dysfunction, which may contribute to hypertension in POR deficiency patients.	Up to 6 months from the start of participant enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ambulatory Blood Pressure Monitoring (ABPM) Findings in POR Deficiency Patients Compared to Healthy Controls	This measure assesses the 24-hour ambulatory blood pressure monitoring (ABPM) results, including systolic, diastolic, and mean arterial pressures, in Cytochrome P450 Oxidoreductase (POR) deficiency patients compared to healthy controls. It aims to identify hypertension prevalence and nocturnal blood pressure patterns in POR deficiency patients.	Up to 6 months from the start of participant enrollment

Collaborators and Investigators

• Sponsor: Ozge Bayrak Demirel
• Collaborators: Istanbul University; The Scientific and Technological Research Council of Turkey
• Investigators: Study Director: Ozge Bayrak Demirel, MD, Istanbul University

Study record dates

Study Major Dates

• Study Start (Actual): December 24, 2024
• Primary Completion (Actual): August 12, 2025
• Study Completion (Actual): August 12, 2025

Study Registration Dates

• First Submitted: December 26, 2024
• First Submitted That Met QC Criteria: December 26, 2024
• First Posted (Actual): January 3, 2025

Study Record Updates

• Last Update Posted (Estimated): September 8, 2025
• Last Update Submitted That Met QC Criteria: August 30, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: Hypertension; Congenital Adrenal Hyperplasia; Endothelial Dysfunction; Cytochrome P450 Oxidoreductase Deficiency; POR Deficiency
• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Bone Diseases; Musculoskeletal Diseases; Vascular Diseases; Cardiovascular Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Gonadal Disorders; Musculoskeletal Abnormalities; Congenital Abnormalities; Adrenal Gland Diseases; Disorders of Sex Development; Urogenital Abnormalities; Steroid Metabolism, Inborn Errors; Bone Diseases, Developmental; Synostosis; Dysostoses; Adrenogenital Syndrome; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hypertension; Adrenal Hyperplasia, Congenital; Antley-Bixler Syndrome Phenotype
• Other Study ID Numbers: PORENDO; 324S091 (Other Grant/Funding Number: TUBITAK)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: The data will not be shared due to confidentiality concerns and the small sample size of the study, which may risk participant anonymity.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No